Incidental Mutation 'R8024:Ano4'
ID |
617595 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano4
|
Ensembl Gene |
ENSMUSG00000035189 |
Gene Name |
anoctamin 4 |
Synonyms |
Tmem16d, A330096O15Rik |
MMRRC Submission |
067463-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8024 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
88784856-89180624 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 88807194 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 796
(I796F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138193
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182341]
[ENSMUST00000182462]
[ENSMUST00000182613]
[ENSMUST00000182790]
|
AlphaFold |
Q8C5H1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000182341
AA Change: I796F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138193 Gene: ENSMUSG00000035189 AA Change: I796F
Domain | Start | End | E-Value | Type |
Pfam:Anoctamin
|
339 |
922 |
4.8e-162 |
PFAM |
low complexity region
|
932 |
945 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182462
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000182613
AA Change: I761F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138268 Gene: ENSMUSG00000035189 AA Change: I761F
Domain | Start | End | E-Value | Type |
Pfam:Anoctamin
|
304 |
887 |
3.6e-162 |
PFAM |
low complexity region
|
897 |
910 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000182790
AA Change: I761F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138325 Gene: ENSMUSG00000035189 AA Change: I761F
Domain | Start | End | E-Value | Type |
Pfam:Anoctamin
|
304 |
887 |
3.6e-162 |
PFAM |
low complexity region
|
897 |
910 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (74/74) |
Allele List at MGI |
All alleles(1) : Targeted(1)
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
T |
13: 77,760,713 (GRCm39) |
N1257Y |
probably benign |
Het |
2310057J18Rik |
A |
T |
10: 28,858,591 (GRCm39) |
Y133* |
probably null |
Het |
2310057J18Rik |
A |
C |
10: 28,862,213 (GRCm39) |
S26A |
possibly damaging |
Het |
9930012K11Rik |
G |
T |
14: 70,394,116 (GRCm39) |
P220T |
probably damaging |
Het |
Adam1b |
A |
C |
5: 121,638,986 (GRCm39) |
S686R |
probably benign |
Het |
Adam8 |
T |
C |
7: 139,567,489 (GRCm39) |
D418G |
probably damaging |
Het |
Adcy8 |
A |
G |
15: 64,792,095 (GRCm39) |
L287P |
probably damaging |
Het |
Adhfe1 |
T |
A |
1: 9,634,080 (GRCm39) |
M373K |
probably benign |
Het |
Alpk2 |
T |
C |
18: 65,438,106 (GRCm39) |
S1096G |
probably benign |
Het |
Ankmy1 |
A |
G |
1: 92,812,716 (GRCm39) |
V531A |
probably benign |
Het |
Ano3 |
C |
T |
2: 110,498,128 (GRCm39) |
E738K |
probably damaging |
Het |
Apeh |
T |
C |
9: 107,969,790 (GRCm39) |
E190G |
probably benign |
Het |
Atpsckmt |
T |
C |
15: 31,608,317 (GRCm39) |
Y123H |
probably damaging |
Het |
Cadm3 |
A |
G |
1: 173,165,622 (GRCm39) |
L346P |
probably damaging |
Het |
Ccdc9b |
A |
G |
2: 118,591,005 (GRCm39) |
|
probably null |
Het |
Clec2e |
G |
A |
6: 129,071,388 (GRCm39) |
H150Y |
possibly damaging |
Het |
Cnga4 |
A |
T |
7: 105,056,042 (GRCm39) |
N318Y |
probably damaging |
Het |
Cnr2 |
T |
A |
4: 135,644,196 (GRCm39) |
F91L |
probably damaging |
Het |
Diaph3 |
T |
A |
14: 86,893,835 (GRCm39) |
E1147V |
probably damaging |
Het |
Elmo2 |
T |
C |
2: 165,133,775 (GRCm39) |
T738A |
unknown |
Het |
Exoc4 |
T |
A |
6: 33,324,866 (GRCm39) |
W387R |
probably damaging |
Het |
Focad |
T |
C |
4: 88,315,237 (GRCm39) |
V1379A |
unknown |
Het |
Frmd4a |
T |
C |
2: 4,608,513 (GRCm39) |
S794P |
probably damaging |
Het |
Ftl1-ps1 |
A |
G |
13: 74,555,170 (GRCm39) |
T150A |
probably benign |
Het |
Gm43517 |
A |
T |
12: 49,436,409 (GRCm39) |
|
probably benign |
Het |
Gm5773 |
C |
T |
3: 93,680,475 (GRCm39) |
A49V |
probably benign |
Het |
Helz |
T |
A |
11: 107,577,247 (GRCm39) |
L1867Q |
unknown |
Het |
Il22ra1 |
A |
G |
4: 135,461,589 (GRCm39) |
H118R |
probably benign |
Het |
Inf2 |
C |
T |
12: 112,575,336 (GRCm39) |
P856S |
unknown |
Het |
Ints5 |
T |
A |
19: 8,873,504 (GRCm39) |
L488I |
probably damaging |
Het |
Iqca1l |
A |
G |
5: 24,755,634 (GRCm39) |
M296T |
possibly damaging |
Het |
Kifc1 |
G |
A |
17: 34,102,177 (GRCm39) |
R479C |
probably damaging |
Het |
Lrba |
T |
A |
3: 86,202,708 (GRCm39) |
C289* |
probably null |
Het |
Mael |
A |
G |
1: 166,054,196 (GRCm39) |
L196S |
probably damaging |
Het |
Med23 |
T |
A |
10: 24,755,581 (GRCm39) |
S229R |
possibly damaging |
Het |
Mroh9 |
T |
C |
1: 162,866,802 (GRCm39) |
N645D |
probably benign |
Het |
Myom3 |
G |
A |
4: 135,529,059 (GRCm39) |
V1132I |
probably benign |
Het |
Naalad2 |
T |
G |
9: 18,308,769 (GRCm39) |
|
probably benign |
Het |
Ndufa13 |
A |
T |
8: 70,347,187 (GRCm39) |
L71H |
probably damaging |
Het |
Nepro |
A |
T |
16: 44,551,778 (GRCm39) |
H212L |
probably benign |
Het |
Nmd3 |
T |
A |
3: 69,637,298 (GRCm39) |
|
probably benign |
Het |
Nox4 |
T |
A |
7: 86,954,118 (GRCm39) |
L141Q |
probably damaging |
Het |
Or4a81 |
T |
C |
2: 89,619,390 (GRCm39) |
E102G |
probably benign |
Het |
Or5p53 |
T |
C |
7: 107,533,645 (GRCm39) |
V306A |
probably benign |
Het |
Or5p58 |
T |
A |
7: 107,694,496 (GRCm39) |
T94S |
probably benign |
Het |
Or6c215 |
T |
G |
10: 129,637,812 (GRCm39) |
E194A |
probably damaging |
Het |
Or8s2 |
T |
A |
15: 98,276,878 (GRCm39) |
M38L |
probably benign |
Het |
Pfpl |
A |
G |
19: 12,407,570 (GRCm39) |
D607G |
possibly damaging |
Het |
Pkd1l2 |
A |
T |
8: 117,802,921 (GRCm39) |
F233L |
possibly damaging |
Het |
Prl6a1 |
A |
G |
13: 27,502,678 (GRCm39) |
|
probably benign |
Het |
Ptprz1 |
A |
T |
6: 23,042,750 (GRCm39) |
E2058V |
probably damaging |
Het |
Rag1 |
A |
T |
2: 101,472,852 (GRCm39) |
N763K |
probably damaging |
Het |
Rhbg |
A |
C |
3: 88,155,760 (GRCm39) |
D63E |
probably damaging |
Het |
Rrm1 |
T |
A |
7: 102,106,472 (GRCm39) |
F330L |
probably benign |
Het |
Scaf8 |
A |
T |
17: 3,209,568 (GRCm39) |
Q97L |
unknown |
Het |
Sdr9c7 |
G |
A |
10: 127,734,751 (GRCm39) |
V80I |
probably benign |
Het |
Slc18a1 |
A |
G |
8: 69,527,799 (GRCm39) |
V4A |
probably benign |
Het |
Slco3a1 |
T |
A |
7: 74,204,218 (GRCm39) |
I41F |
probably benign |
Het |
Slirp |
T |
C |
12: 87,494,370 (GRCm39) |
V45A |
probably damaging |
Het |
Spata31 |
A |
T |
13: 65,070,618 (GRCm39) |
Q922L |
probably benign |
Het |
Spg11 |
A |
G |
2: 121,927,802 (GRCm39) |
S661P |
possibly damaging |
Het |
Stab2 |
G |
T |
10: 86,681,916 (GRCm39) |
T2495K |
probably benign |
Het |
Supt16 |
A |
G |
14: 52,408,332 (GRCm39) |
I871T |
probably damaging |
Het |
Sval2 |
A |
G |
6: 41,837,298 (GRCm39) |
Q9R |
probably damaging |
Het |
Syngap1 |
A |
T |
17: 27,160,426 (GRCm39) |
M1L |
probably benign |
Het |
Tfpi |
A |
T |
2: 84,284,266 (GRCm39) |
M62K |
possibly damaging |
Het |
Tm4sf1 |
A |
T |
3: 57,195,186 (GRCm39) |
Y200* |
probably null |
Het |
Tmc1 |
A |
T |
19: 20,878,181 (GRCm39) |
W105R |
probably damaging |
Het |
Tmtc2 |
T |
C |
10: 105,025,987 (GRCm39) |
E827G |
probably benign |
Het |
Tollip |
T |
C |
7: 141,446,563 (GRCm39) |
I33V |
probably benign |
Het |
Unc80 |
T |
A |
1: 66,645,803 (GRCm39) |
V1493D |
possibly damaging |
Het |
Vmn2r6 |
G |
A |
3: 64,467,245 (GRCm39) |
R85W |
probably benign |
Het |
Vwa5a |
C |
A |
9: 38,647,316 (GRCm39) |
S565* |
probably null |
Het |
Xbp1 |
T |
A |
11: 5,471,910 (GRCm39) |
V12D |
probably benign |
Het |
|
Other mutations in Ano4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00642:Ano4
|
APN |
10 |
88,790,529 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00916:Ano4
|
APN |
10 |
88,833,960 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01010:Ano4
|
APN |
10 |
88,796,462 (GRCm39) |
missense |
probably benign |
0.14 |
IGL01015:Ano4
|
APN |
10 |
88,870,961 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01877:Ano4
|
APN |
10 |
88,860,932 (GRCm39) |
nonsense |
probably null |
0.00 |
IGL02310:Ano4
|
APN |
10 |
88,859,740 (GRCm39) |
nonsense |
probably null |
|
IGL02390:Ano4
|
APN |
10 |
88,860,843 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02560:Ano4
|
APN |
10 |
88,814,603 (GRCm39) |
nonsense |
probably null |
|
Dwindle
|
UTSW |
10 |
88,819,640 (GRCm39) |
missense |
probably damaging |
0.98 |
BB007:Ano4
|
UTSW |
10 |
89,163,138 (GRCm39) |
missense |
possibly damaging |
0.53 |
BB017:Ano4
|
UTSW |
10 |
89,163,138 (GRCm39) |
missense |
possibly damaging |
0.53 |
P0017:Ano4
|
UTSW |
10 |
88,817,052 (GRCm39) |
nonsense |
probably null |
|
PIT4486001:Ano4
|
UTSW |
10 |
88,828,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R0126:Ano4
|
UTSW |
10 |
88,788,154 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0380:Ano4
|
UTSW |
10 |
88,814,675 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0508:Ano4
|
UTSW |
10 |
88,816,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R0540:Ano4
|
UTSW |
10 |
88,859,806 (GRCm39) |
missense |
probably benign |
0.00 |
R1802:Ano4
|
UTSW |
10 |
88,816,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R1864:Ano4
|
UTSW |
10 |
88,807,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R1871:Ano4
|
UTSW |
10 |
88,828,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R2829:Ano4
|
UTSW |
10 |
88,948,801 (GRCm39) |
missense |
possibly damaging |
0.58 |
R2880:Ano4
|
UTSW |
10 |
88,948,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R3846:Ano4
|
UTSW |
10 |
88,831,114 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3904:Ano4
|
UTSW |
10 |
88,860,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R4006:Ano4
|
UTSW |
10 |
88,924,125 (GRCm39) |
missense |
probably benign |
0.18 |
R4429:Ano4
|
UTSW |
10 |
88,828,804 (GRCm39) |
missense |
probably damaging |
0.99 |
R4547:Ano4
|
UTSW |
10 |
88,817,032 (GRCm39) |
missense |
probably null |
|
R4638:Ano4
|
UTSW |
10 |
88,790,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R4640:Ano4
|
UTSW |
10 |
88,790,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R4876:Ano4
|
UTSW |
10 |
88,948,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R5007:Ano4
|
UTSW |
10 |
88,948,807 (GRCm39) |
missense |
probably benign |
0.26 |
R5104:Ano4
|
UTSW |
10 |
88,903,974 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5151:Ano4
|
UTSW |
10 |
88,948,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R5215:Ano4
|
UTSW |
10 |
89,153,165 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5396:Ano4
|
UTSW |
10 |
88,948,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R5826:Ano4
|
UTSW |
10 |
88,788,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R6018:Ano4
|
UTSW |
10 |
88,865,128 (GRCm39) |
missense |
probably benign |
0.01 |
R6036:Ano4
|
UTSW |
10 |
88,818,127 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6036:Ano4
|
UTSW |
10 |
88,818,127 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6037:Ano4
|
UTSW |
10 |
89,153,108 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6037:Ano4
|
UTSW |
10 |
89,153,108 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6222:Ano4
|
UTSW |
10 |
88,863,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R6387:Ano4
|
UTSW |
10 |
88,807,267 (GRCm39) |
nonsense |
probably null |
|
R6521:Ano4
|
UTSW |
10 |
88,819,640 (GRCm39) |
missense |
probably damaging |
0.98 |
R6739:Ano4
|
UTSW |
10 |
88,863,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R6786:Ano4
|
UTSW |
10 |
88,828,732 (GRCm39) |
splice site |
probably null |
|
R7035:Ano4
|
UTSW |
10 |
88,790,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R7523:Ano4
|
UTSW |
10 |
88,807,257 (GRCm39) |
nonsense |
probably null |
|
R7715:Ano4
|
UTSW |
10 |
88,831,173 (GRCm39) |
missense |
probably damaging |
0.99 |
R7930:Ano4
|
UTSW |
10 |
89,163,138 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7955:Ano4
|
UTSW |
10 |
88,831,088 (GRCm39) |
missense |
probably null |
0.45 |
R7975:Ano4
|
UTSW |
10 |
88,952,847 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8005:Ano4
|
UTSW |
10 |
88,807,183 (GRCm39) |
missense |
probably benign |
0.04 |
R8168:Ano4
|
UTSW |
10 |
88,816,857 (GRCm39) |
missense |
probably damaging |
0.96 |
R8190:Ano4
|
UTSW |
10 |
88,808,607 (GRCm39) |
missense |
probably benign |
0.13 |
R8206:Ano4
|
UTSW |
10 |
88,860,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R8252:Ano4
|
UTSW |
10 |
88,816,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R8285:Ano4
|
UTSW |
10 |
88,904,079 (GRCm39) |
missense |
probably damaging |
0.98 |
R8917:Ano4
|
UTSW |
10 |
88,788,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R9302:Ano4
|
UTSW |
10 |
88,831,220 (GRCm39) |
missense |
probably benign |
0.00 |
R9688:Ano4
|
UTSW |
10 |
89,180,506 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
T0970:Ano4
|
UTSW |
10 |
88,817,052 (GRCm39) |
nonsense |
probably null |
|
Z1176:Ano4
|
UTSW |
10 |
88,948,807 (GRCm39) |
missense |
probably benign |
0.37 |
|
Predicted Primers |
PCR Primer
(F):5'- GACTTGTTTGGGCTCCAACC -3'
(R):5'- AATGCCTTGTTGCCAGAGG -3'
Sequencing Primer
(F):5'- GCTCCAACCCTTTGCTAAATAGGATG -3'
(R):5'- TTGGAAAGATGAAAAAGGACTTTCAC -3'
|
Posted On |
2020-01-23 |